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Study shows severe birth defects are not as lethal as docs once said

Parents of newborns with rare genetic conditions used to hear the grim words that the severe birth defects were "incompatible with life." Support groups and social media showing the exceptions have changed the landscape. So has mounting research suggesting that not all such babies are doomed to die.

The latest study focuses on trisomy 13 and trisomy 18 — genetic conditions that typically cause mental impairment, facial and organ abnormalities, breathing problems, heart defects and other medical problems. They involve extra copies of certain chromosomes. The study was published Tuesday, July 26 in the Journal of the American Medical Association.

Two decades of data from Ontario, Canada, illustrates how rare the conditions are and how most babies still die. Of the 428 babies born, only 65 — less than 20 percent — lived for at least a year. Twenty-nine survived at least 10 years. There's little previous research on these children surviving that long, and the new results suggest the birth defects are not always as lethal as doctors have advised parents.

The study doesn't include information on survivors' quality of life, but severe disabilities are the norm. The researchers say without that information, the study alone can't guide decisions about how to treat children with the conditions.

Online images of smiling kids with the conditions has led some parents to doubt the dire warnings and seek aggressive and costly surgeries to correct organ abnormalities. Ethicists say the power of social media is changing the landscape for how the medical community views these children, although some still say it is acceptable to let newborns with the conditions die.

Despite the survival of some, an editorial accompanying the Canadian study says it is "ethically justifiable" to withhold aggressive medical treatment and let some infants die while offering aggressive treatment to others. Parents' values should drive the decisions, said Dr. John Lantos, a medical ethicist at Children's Mercy who wrote the editorial.

Lantos notes that 30 years ago, new doctors were taught that the two conditions were fatal, but "in the social media age, however, everything changed," he wrote.

Sometimes support groups and imagery of surviving children give other parents false hope. But Lantos said it also empowers parents, "by allowing them to share stories, to compare doctors and to present their physicians with information that challenge medical literature," he said.